Surveillance of vision and ocular disorders in children with Down syndrome

Abstract

Children with Down syndrome have a high prevalence of ocular disorders. The UK Down's Syndrome Medical Interest Group (DSMIG) guidelines for ophthalmic screening were locally implemented into a protocol that included neonatal eye examination by an opthalmologist and a comprehensive ophthalmological examination (cycloplegic refraction, ophthalmoscopy, and orthoptic assessement) by at least the age of 3 years, followed by preschool follow‐up as indicated. We audited retrospectively surveillance for ocular disorders before and after the DSMIG‐based guidelines were locally adopted in 1995. Results were compared for children born before and after the implementation of screening guidelines. A total of 81 children (43 females, 38 males) with Down syndrome were identified. After the DSMIG protocol, 34/36 children received a full ophthalmological examination in the neonatal period, compared with 9/27 children before 1995 (p<0.001). Neonatal screening resulted in the detection of cataracts in three infants. Mean age of first comprehensive ophthalmic screening outside the neonatal period was similar in the two groups (1y 6mo before guidelines vs 1y 9mo after), as were the proportion of children receiving preschool eye checks (27/30 before; 17/18 after). Overall, 65.7% children were screened in accordance with the guidelines, improving to 100% in recent years. At school age, 43% of the study population had significant refractive errors, with 27% having hypermetropia and astigmatism. Earlier prescription of glasses for refractive errors was seen (mean age 5y 6mo before guidelines; 3y 6mo after; p<0.001). Prevalence of other ocular disorders included strabismus (34/72, 47%), nasolacrimal duct obstruction (26/73, 35.6%), cataracts (5/64, 7.8%), and nystagmus (12/72, 16%). Establishment of the DSMIG‐based local protocol has streamlined ocular surveillance. It is anticipated that this will improve developmental and functional outcomes in Down syndrome.

Distinct Ocular Expression in Infants and Children With Down Syndrome in Cairo, Egypt

“…38 As we found in our population, Stephen and colleagues, 31 in the United Kingdom, reported an increase in refractive errors with age. To our knowledge, no previous study of refractive errors in Middle Eastern individuals with Down syndrome has been published.…”

“…36 In a large population of infants and children with Down syndrome undergoing cataract surgery, 76% had congenital cataract. 83 As documented in Table 1, the presence of cataract in comparable pediatric age groups ranged from 2% 50 in a large Indian population (aged ≤26 years) to 3% in the United States 32 (aged ≤19 years), 13% in Brazil (aged ≤19 years), 35 and 18% in Scotland 31 ; in the population younger than 5 years, a subset of the heterogeneous Brazilian population studied, 35 the prevalence was 1% compared with 6% in our Cairo patients. Although the genetic background, including modifier genes, is the most likely basis for such differences, examination methods or environmental factors may confound the analyses.…”

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

“…In a study by Stephen et al, 7.8% of children with Down syndrome had congenital cataract. 6 This produces an overall diagnostic rate of 2% (2/96). The remaining three positive findings were judged to be non-causal.…”

Childhood glaucoma in Down syndrome: a case report and literature review

“…An increased prevalence of congenital cataracts, childhood glaucoma, keratoconus and nystagmus also noted in this group of children. 3 According to Childhood Glaucoma Research Network/World Glaucoma Association, glaucoma in down syndrome children is classified under childhood glaucoma with nonacquired systemic disease. Although the management is almost similar to primary congenital glaucoma, the outcomes and prognosis of these children vary due to the associated comorbidities.…”